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. 2023 Apr 6;23:324. doi: 10.1186/s12885-023-10775-9

Table 4.

TP53 mutations found from study subjects

Frequency of detection Exon Codon Base substitution Amino acid change Mutation Type Within DNA binding Domain Hotspota
1 E05 387 CT A129A Heterozygous Yes Not detected
1 E05 413 CT A138V Heterozygous Yes Yes
1 E05 477 CT A159A Heterozygous Yes Yes
1 E06 572_574 delCTC A189A Homozygous Yes Yes
1 E06 566 CT A189V Heterozygous Yes No
1 E08 919 GA A307T Heterozygous No Not detected
1 E05 405 CT C135C Heterozygous Yes Yes
1 E05 404 GA C135Y Heterozygous Yes Yes
1 E05 423_427 delCCCTG C140Cfs*6 Heterozygous Yes No
1 E05 423 CT C141C Heterozygous Yes Yes
1 E05 527 GT C176F Heterozygous Yes Yes
1 E05 442 GT D148Y Heterozygous Yes No
1 E06 624 CT D208D Heterozygous Yes Yes
1 E06 592 GA E198K Heterozygous Yes Yes
1 E06 610 GT E204X Heterozygous Yes Yes
1 E08 811 GT E271X Heterozygous Yes No
1 E08 813 GA E271E Heterozygous Yes Yes
1 E08 811 GA E271K Heterozygous Yes Yes
1 E08 854 AG E285G Homozygous Yes No
1 E08 856 GA E286K Heterozygous Yes No
1 E08 859 GT E287X Heterozygous Yes Yes
1 E08 880 GT E294X Heterozygous No Yes
1 E08 892 GA E298K Heterozygous No Yes
1 E05 461 GA G154D Heterozygous Yes Yes
1 E05 534 CT H178H Heterozygous Yes Yes
1 E05 536 AG H179R Heterozygous Yes Yes
1 E05 486 CT I162I Heterozygous Yes Yes
1 E05 485 TC I162T Heterozygous Yes No
1 E06 583 AT I195F Heterozygous Yes Yes
1 E08 915 GA K305K Homozygous No Yes
1 E08 866 TC L289P Homozygous Yes No
1 E08 865 CG L289V Heterozygous Yes No
1 E05 426 TC P142P Heterozygous Yes Yes
1 E05 452 CA P151H Heterozygous Yes Yes
2 E05 452 CT P151L Heterozygous Yes Yes
1 E05 457 CT P153S Heterozygous Yes No
1 E05 530 CT P177L Heterozygous Yes No
1 E06 667 CT P223S Heterozygous Yes Yes
1 E05 408 AG Q136Q Homozygous Yes Yes
1 E05 430 CT Q144X Homozygous Yes No
1 E05 493 CT Q165X Heterozygous Yes No
1 E05 523 CT R175C Heterozygous Yes Yes
1 E05 524 GA R175H Heterozygous Yes Yes
2 E06 586 CT R196X Heterozygous Yes Yes
1 E06 626 GA R209K Heterozygous Yes Yes
3 E06 637 CT R213X Heterozygous Yes No
1 E06 638 GT R213L Heterozygous Yes Yes
1 E08 801 GA R267R Heterozygous Yes Yes
1 E08 846 GA R282R Heterozygous Yes Yes
1 E08 844 CT R282W Homozygous Yes Yes
1 E08 869 GT R290L Heterozygous No Yes
2 E08 916 CT R306X Heterozygous No Yes
1 E05 419 CT T140I Heterozygous Yes No
1 E06 632 CT T211I Heterozygous Yes Yes
1 E08 919 delG T304P Heterozygous No No
1 E05 428 TC V143A Heterozygous Yes No
1 E05 517 GT V173L Heterozygous Yes Yes
1 E06 609 GA V203V Homozygous Yes Yes
1 E08 814 GA V272M Heterozygous Yes Yes
1 E05 489 CA Y163X Heterozygous Yes No
1 E05 489 CT Y163Y Heterozygous Yes Yes
1 E06 613 TC Y205H Heterozygous Yes Yes
1 E06 659 AG Y220C Heterozygous Yes Yes
1 E05 376-28_413 delCAACTCTGTCTCCTTCCTCTTCCTACAGTACTCCCCTGCCCTCAACAAGATGTTTTGCCAACTGGC Heterozygous No Not detected
1 E08 894_895 insAG Heterozygous No Yes

This form made in accordance with the nomenclature rules of the Human Genome Variation Society (http://www.HGVS.org/varnomen). del, deletion; ins, insertion; fs, frame shift

a According to the TP53 Database (R20, July 2019): https://tp53.isb-cgc.org